HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431624G= , CM000663.2:g.229431624G= | GRCh38 |
NC_000001.10:g.229567371G= , CM000663.1:g.229567371G= | GRCh37 |
NC_000001.9:g.227633994G= | NCBI36 |
NG_006672.1:g.7473C= , LRG_429:g.7473C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.991-60C= | ENSP00000355644.4:n.991-60C= | |
ENST00000684723.1:c.874C= | ENSP00000508084.1:p.Arg292= | |
ENST00000366683.3:c.640C= | ENSP00000355644.3:p.Arg214= | |
ENST00000366684.7:c.1009C= MANE Select | ENSP00000355645.3:p.Arg337= | |
NM_001100.3:c.1009C= , LRG_429t1:c.1009C= | NP_001091.1:p.Arg337= | |
NM_001100.4:c.1009C= MANE Select | NP_001091.1:p.Arg337= |